Incidental Mutation 'R0348:Serpina1d'
ID36014
Institutional Source Beutler Lab
Gene Symbol Serpina1d
Ensembl Gene ENSMUSG00000071177
Gene Nameserine (or cysteine) peptidase inhibitor, clade A, member 1D
SynonymsSpi1-4, PI4
MMRRC Submission 038555-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.195) question?
Stock #R0348 (G1)
Quality Score225
Status Not validated
Chromosome12
Chromosomal Location103763594-103773592 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 103763775 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 383 (V383M)
Ref Sequence ENSEMBL: ENSMUSP00000077909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078869] [ENSMUST00000164454]
Predicted Effect probably benign
Transcript: ENSMUST00000078869
AA Change: V383M

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000077909
Gene: ENSMUSG00000071177
AA Change: V383M

DomainStartEndE-ValueType
low complexity region 9 18 N/A INTRINSIC
SERPIN 53 410 3.17e-200 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164454
SMART Domains Protein: ENSMUSP00000127266
Gene: ENSMUSG00000071178

DomainStartEndE-ValueType
SERPIN 53 410 7.62e-203 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik T C 11: 3,894,987 D34G probably benign Het
Adam6a T C 12: 113,544,717 S237P probably damaging Het
Adamts13 A C 2: 26,981,080 D235A probably benign Het
Adgb T A 10: 10,357,879 M1259L probably benign Het
Apbb1 T C 7: 105,565,303 Q529R probably damaging Het
Bcl2 G A 1: 106,712,562 R107C probably damaging Het
Camta1 T C 4: 151,586,431 T96A possibly damaging Het
Ccdc148 A T 2: 59,004,072 probably null Het
Cep170b T C 12: 112,736,806 Y568H probably damaging Het
Clca4b A T 3: 144,921,980 I410N probably damaging Het
Cnot10 G A 9: 114,598,770 T592I probably benign Het
Col6a3 C T 1: 90,828,049 A173T probably damaging Het
Ctcf T A 8: 105,676,157 C560* probably null Het
Daglb G A 5: 143,487,196 V369I probably benign Het
Defb19 G A 2: 152,580,226 L8F unknown Het
Emcn G T 3: 137,372,847 E65* probably null Het
Etl4 G T 2: 20,778,129 R753L probably damaging Het
Fam151b T C 13: 92,450,181 Y248C probably benign Het
Fmo1 T C 1: 162,836,135 D275G probably benign Het
Gjd4 A G 18: 9,280,964 V38A possibly damaging Het
Hivep1 T C 13: 42,158,379 V1365A possibly damaging Het
Hivep2 T C 10: 14,129,958 S767P possibly damaging Het
Hoxa6 T C 6: 52,206,568 T166A possibly damaging Het
Ift80 G T 3: 68,935,899 L367I probably benign Het
Igf2bp1 T C 11: 95,968,893 N369S possibly damaging Het
Igsf11 C A 16: 39,008,817 D24E probably benign Het
Ints5 C T 19: 8,895,750 L358F probably damaging Het
Kbtbd3 A G 9: 4,330,519 T298A possibly damaging Het
Kif28 C A 1: 179,731,253 V297F probably damaging Het
Krt12 T C 11: 99,417,945 Y422C probably damaging Het
Lig1 T A 7: 13,309,197 W856R probably damaging Het
Liph C T 16: 21,967,980 probably null Het
Lrig3 T A 10: 126,013,448 C1012* probably null Het
Lrit1 A G 14: 37,060,225 E285G probably damaging Het
Lrrc31 A G 3: 30,689,228 V196A probably benign Het
Lrrn4 T C 2: 132,870,443 T487A probably benign Het
Mllt10 T C 2: 18,162,613 Y372H probably damaging Het
Mrpl50 A T 4: 49,514,515 V52E probably damaging Het
Mthfd1l T C 10: 4,056,766 V676A probably damaging Het
Ncl C T 1: 86,356,640 D245N possibly damaging Het
Neil1 A T 9: 57,146,781 probably null Het
Nfatc3 A G 8: 106,092,195 E515G probably damaging Het
Nlrp4b A G 7: 10,715,181 E70G possibly damaging Het
Nme3 A T 17: 24,896,517 I2F possibly damaging Het
Nup210 G A 6: 91,074,310 H364Y probably benign Het
Nxpe3 T A 16: 55,866,535 T37S probably benign Het
Olfm1 T A 2: 28,212,542 M76K probably benign Het
Pgbd5 A T 8: 124,434,032 V32E probably damaging Het
Plcb4 T C 2: 135,968,419 M646T probably damaging Het
Plekha7 G A 7: 116,158,020 P565L probably damaging Het
Poc5 A G 13: 96,398,866 D213G probably null Het
Poli A G 18: 70,523,381 I125T probably benign Het
Ppm1f T C 16: 16,903,390 M1T probably null Het
Psmd7 T C 8: 107,580,891 K320R unknown Het
Rabggtb A G 3: 153,910,317 V128A probably damaging Het
Rasa2 A T 9: 96,571,959 L308H probably damaging Het
Sipa1l1 T C 12: 82,384,756 probably null Het
Sos1 T C 17: 80,408,311 T1006A probably benign Het
Sugp1 T A 8: 70,070,008 Y453N probably damaging Het
Taf3 A T 2: 10,042,644 D64E probably benign Het
Tcf19 A T 17: 35,515,904 probably null Het
Trim60 T A 8: 65,001,216 H127L probably damaging Het
Tubb4a C T 17: 57,080,770 V419M probably damaging Het
Vmn2r22 G T 6: 123,637,725 T302K probably damaging Het
Vmn2r68 T G 7: 85,221,676 T800P possibly damaging Het
Zfhx2 A C 14: 55,063,508 V2262G probably damaging Het
Other mutations in Serpina1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01410:Serpina1d APN 12 103763734 missense probably benign 0.00
IGL02175:Serpina1d APN 12 103765696 splice site probably null
IGL02336:Serpina1d APN 12 103764796 nonsense probably null
IGL03260:Serpina1d APN 12 103763849 missense probably damaging 0.98
R0119:Serpina1d UTSW 12 103765757 missense probably damaging 1.00
R0299:Serpina1d UTSW 12 103765757 missense probably damaging 1.00
R0499:Serpina1d UTSW 12 103765757 missense probably damaging 1.00
R1086:Serpina1d UTSW 12 103763787 missense probably benign
R1864:Serpina1d UTSW 12 103767997 missense probably benign 0.21
R1883:Serpina1d UTSW 12 103765778 missense possibly damaging 0.64
R1884:Serpina1d UTSW 12 103765778 missense possibly damaging 0.64
R3731:Serpina1d UTSW 12 103767905 missense possibly damaging 0.63
R3973:Serpina1d UTSW 12 103767848 missense probably benign 0.01
R3976:Serpina1d UTSW 12 103767848 missense probably benign 0.01
R4227:Serpina1d UTSW 12 103767481 missense probably benign 0.03
R4783:Serpina1d UTSW 12 103767824 missense possibly damaging 0.87
R5672:Serpina1d UTSW 12 103763842 missense possibly damaging 0.69
R5764:Serpina1d UTSW 12 103765821 missense probably benign 0.00
R6244:Serpina1d UTSW 12 103764828 unclassified probably null
R6314:Serpina1d UTSW 12 103764700 missense probably benign 0.39
R6548:Serpina1d UTSW 12 103767552 missense probably damaging 1.00
R6554:Serpina1d UTSW 12 103764803 missense probably benign 0.09
R6953:Serpina1d UTSW 12 103767730 missense probably benign 0.00
R7106:Serpina1d UTSW 12 103765721 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTGCAGTAGCATCAGGCACGAG -3'
(R):5'- TCTCTGAAGCTATGAGCTGCACCC -3'

Sequencing Primer
(F):5'- ATCAGGCACGAGCCAGG -3'
(R):5'- GGAGACACTCCCTAGTGAAGTC -3'
Posted On2013-05-09